The Plummeting Cost of Genome SequencingDaniel MacArthur
Throughout, we ground the discussion by describing efforts in the MedSeq Project, an ongoing randomized controlled clinical trial, to understand the costs and cost-effectiveness of integrating whole genome sequencing into cardiology and primary care settings. 展开 关键词: whole genomic sequencing whole...
Genetic testing is routine practice for individuals with unexplained developmental disabilities and multiple congenital anomalies. However, current testing pathways can be costly and time consuming, and the diagnostic yield low. Genome-wide sequencing, i
Here, we present an integrated experimental and computational system for the accurate and affordable detection of cancer. It consists of (1) a cost-effective experimental assay, named cell-free DNA Methylome Sequencing (cfMethyl-Seq), for genome-wide methylation profiling of cfDNA, and (2) a co...
Sequencing a nucleic-acid sample only makes up part of the process. The data must be analyzed, and the cost of analysis depends on the intended goals. With human whole-genome sequencing (WGS), “basic analysis would cover the known variants of the 59 genes identified by the American College...
We present an approach in which 192 sequencing libraries can be produced in a single day of technician time at a cost of about $15 per sample. These libraries are effective not only for low-pass whole-genome sequencing, but also for simultaneously enriching them in pools of approximately 100...
Over time,WGAcosts decreased, driven by a reduction in costs of sequencing. Yet, costs of other components ofWGAincreased. Forecasting showedWGAcosts may not reach critical thresholds within the next 10 years. WGAcosts decreased over the studied time horizon, but expenditures needed to realizeWGA...
Ranallo-Benavidez T R, Lemmon Z, Soyk S, et al. Optimized sample selection for cost-efficient long-read population sequencing[J]. Genome Research, 2021, 31(5): 910-918.https://www.genome.org/cgi/doi/10.1101/gr.264879.120. 当使用低分辨率方法(如芯片、外显子捕获、短读长WGS等)对大型群体...
The MiSeq Sequencing System provides high-quality sequencing, simple data analysis, and cloud storage for targeted and microbial genome applications.
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment. Arch Public Health. 2023;81(1):93. doi:10.1186/s13690-023-01112-4PubMedGoogle ScholarCrossref 10. Moretti A, Cianci P, De Paoli...